| | LOC130005193, SMPD1 (G26R) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Duplication (inframe_insertion +2 more) | not provided +2 more | |
| | | Deletion (inframe_deletion +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Microsatellite (inframe_insertion +2 more) | Niemann-Pick disease, type B +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Microsatellite (inframe_deletion +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Microsatellite (inframe_deletion +2 more) | not specified +3 more | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +4 more | |
| | | Deletion (frameshift variant +1 more) | Niemann-Pick disease, type A +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +3 more | |